Mutagenetix > Incidental Mutation

Incidental Mutation 'R4207:Rbm5'

318975

Institutional Source

Beutler Lab

Gene Symbol

Rbm5

Ensembl Gene

ENSMUSG00000032580

Gene Name

RNA binding motif protein 5

Synonyms

D030069N10Rik

MMRRC Submission

041036-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R4207 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107740371-107770996 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107750483 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 420 (S420P)

Ref Sequence

ENSEMBL: ENSMUSP00000138379 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035199] [ENSMUST00000182304] [ENSMUST00000182371] [ENSMUST00000182421] [ENSMUST00000182659] [ENSMUST00000192130]

AlphaFold

Q91YE7

Predicted Effect

probably benign
Transcript: ENSMUST00000035199
AA Change: S420P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000035199
Gene: ENSMUSG00000032580
AA Change: S420P

Domain	Start	End	E-Value	Type
low complexity region	21	74	N/A	INTRINSIC
RRM	99	174	5.98e-13	SMART
ZnF_RBZ	183	207	1.53e-6	SMART
RRM	232	311	9.5e-7	SMART
low complexity region	329	355	N/A	INTRINSIC
low complexity region	362	385	N/A	INTRINSIC
low complexity region	393	410	N/A	INTRINSIC
low complexity region	425	446	N/A	INTRINSIC
Blast:RRM_2	483	506	1e-5	BLAST
low complexity region	520	536	N/A	INTRINSIC
low complexity region	569	581	N/A	INTRINSIC
low complexity region	627	641	N/A	INTRINSIC
ZnF_C2H2	647	672	5.2e0	SMART
coiled coil region	673	707	N/A	INTRINSIC
G_patch	741	787	1.85e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182304

SMART Domains

Protein: ENSMUSP00000138380
Gene: ENSMUSG00000032580

Domain	Start	End	E-Value	Type
low complexity region	21	74	N/A	INTRINSIC
RRM	99	174	5.98e-13	SMART
ZnF_RBZ	183	207	1.53e-6	SMART
PDB:2LKZ\|A	231	251	5e-6	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182332

Predicted Effect

probably benign
Transcript: ENSMUST00000182371

SMART Domains

Protein: ENSMUSP00000138119
Gene: ENSMUSG00000032580

Domain	Start	End	E-Value	Type
low complexity region	21	74	N/A	INTRINSIC
SCOP:d1h6kx_	96	138	6e-3	SMART
Blast:RRM	99	136	3e-19	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000182421

SMART Domains

Protein: ENSMUSP00000138778
Gene: ENSMUSG00000032580

Domain	Start	End	E-Value	Type
low complexity region	21	59	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182422

Predicted Effect

probably benign
Transcript: ENSMUST00000182659
AA Change: S420P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138379
Gene: ENSMUSG00000032580
AA Change: S420P

Domain	Start	End	E-Value	Type
low complexity region	21	74	N/A	INTRINSIC
RRM	99	174	5.98e-13	SMART
ZnF_RBZ	183	207	1.53e-6	SMART
RRM	232	311	9.5e-7	SMART
low complexity region	329	355	N/A	INTRINSIC
low complexity region	362	385	N/A	INTRINSIC
low complexity region	393	410	N/A	INTRINSIC
low complexity region	425	446	N/A	INTRINSIC
Blast:RRM_2	483	506	1e-5	BLAST
low complexity region	520	536	N/A	INTRINSIC
low complexity region	569	581	N/A	INTRINSIC
low complexity region	627	641	N/A	INTRINSIC
ZnF_C2H2	647	672	5.2e0	SMART
coiled coil region	673	707	N/A	INTRINSIC
G_patch	741	787	1.85e-21	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182792

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182836

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182856

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183307

Predicted Effect

probably benign
Transcript: ENSMUST00000192130

SMART Domains

Protein: ENSMUSP00000142194
Gene: ENSMUSG00000032580

Domain	Start	End	E-Value	Type
low complexity region	21	74	N/A	INTRINSIC
SCOP:d1h6kx_	96	138	6e-3	SMART
Blast:RRM	99	136	3e-19	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194801

Predicted Effect

unknown
Transcript: ENSMUST00000194400
AA Change: S58P

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194682

Predicted Effect

probably benign
Transcript: ENSMUST00000193342

Meta Mutation Damage Score

0.0709

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

100% (60/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a candidate tumor suppressor gene which encodes a nuclear RNA binding protein that is a component of the spliceosome A complex. The encoded protein plays a role in the induction of cell cycle arrest and apoptosis through pre-mRNA splicing of multiple target genes including the tumor suppressor protein p53. This gene is located within the tumor suppressor region 3p21.3, and may play a role in the inhibition of tumor transformation and progression of several malignancies including lung cancer. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit male infertility with azoospermia, male germ cell apoptosis, round spermatid arrest and spermatid differentiation arrest. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	A	11: 109,981,725	Q17*	probably null	Het
Acap2	T	A	16: 31,119,427	N293I	probably damaging	Het
Adgrg4	G	A	X: 56,918,749	V1893I	possibly damaging	Het
Aff1	T	C	5: 103,818,988		probably null	Het
Ap1b1	A	G	11: 5,031,637	D515G	probably damaging	Het
Brk1	T	C	6: 113,615,844	Y63H	possibly damaging	Het
Cand1	T	C	10: 119,211,845	D580G	probably damaging	Het
Casp4	A	G	9: 5,328,451	D311G	probably benign	Het
Crygs	C	T	16: 22,805,551	G102D	possibly damaging	Het
Ctnnd2	G	T	15: 30,972,827	V1033F	probably damaging	Het
Dhx29	G	T	13: 112,927,949	A53S	probably benign	Het
Dis3	T	G	14: 99,095,316	I227L	probably benign	Het
Efhc2	T	C	X: 17,230,550	N186S	possibly damaging	Het
Efl1	T	C	7: 82,750,816	V592A	probably damaging	Het
Elovl7	A	T	13: 108,282,506	Q224L	possibly damaging	Het
Fcgr3	T	A	1: 171,054,075	K160N	probably benign	Het
Flg	A	G	3: 93,279,862	Y207C	probably benign	Het
Fmn2	A	G	1: 174,581,955	T585A	unknown	Het
Gm7135	T	C	1: 97,469,895		noncoding transcript	Het
Gm8104	G	T	14: 43,101,634	D94Y	probably damaging	Het
Hjurp	G	C	1: 88,277,215		probably benign	Het
Ino80b	G	C	6: 83,122,333	P178R	probably damaging	Het
Kbtbd4	T	C	2: 90,909,755	F495L	probably damaging	Het
Lingo2	T	C	4: 35,709,810	I57V	probably benign	Het
Me2	T	C	18: 73,791,085	K352R	probably benign	Het
Mthfsd	A	G	8: 121,105,626	V133A	probably damaging	Het
Nav2	T	A	7: 49,572,298		probably null	Het
Nav2	T	A	7: 49,597,231	I2168N	probably damaging	Het
Nlrp10	T	A	7: 108,924,341	D644V	possibly damaging	Het
Olfr1472	T	C	19: 13,454,471	I15M	probably benign	Het
Olfr148	A	G	9: 39,613,957	Y130C	possibly damaging	Het
Olfr15	T	C	16: 3,839,570	L199P	probably damaging	Het
Oplah	C	T	15: 76,302,710	R635H	probably damaging	Het
Peli1	A	G	11: 21,147,115		probably null	Het
Pfkfb1	A	T	X: 150,622,188	D208V	possibly damaging	Het
Pld5	T	G	1: 175,993,875	T242P	probably damaging	Het
Rhag	A	T	17: 40,831,653	I250F	probably damaging	Het
Rnase4	A	G	14: 51,105,005	K62R	probably benign	Het
Scaf4	C	T	16: 90,260,215	V83I	unknown	Het
Slc24a2	A	G	4: 87,227,205	V204A	probably damaging	Het
Slc5a8	G	T	10: 88,911,413	L409F	probably damaging	Het
Spns3	A	T	11: 72,538,361	V199E	probably damaging	Het
Sspo	A	G	6: 48,478,293	T3030A	probably benign	Het
Sstr2	A	C	11: 113,624,656	T134P	probably damaging	Het
Stk39	G	T	2: 68,220,920	T527K	probably benign	Het
Sult2a1	T	A	7: 13,801,547	T194S	probably benign	Het
Tamm41	AGGG	AGG	6: 115,012,359		probably benign	Het
Trav7-3	A	G	14: 53,443,746	T82A	probably benign	Het
Umodl1	G	A	17: 30,959,367	V106I	probably damaging	Het
Vmn2r85	A	C	10: 130,418,705	C703W	probably damaging	Het
Vmn2r92	G	A	17: 18,184,261	V556M	possibly damaging	Het
Zfp292	T	C	4: 34,806,079	I2322V	probably benign	Het
Zfp644	T	C	5: 106,618,276	E93G	probably damaging	Het
Zfp81	C	T	17: 33,334,916	C308Y	probably damaging	Het

Other mutations in Rbm5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02041:Rbm5	APN	9	107755846	unclassified	probably benign
IGL02319:Rbm5	APN	9	107743865	nonsense	probably null
IGL02567:Rbm5	APN	9	107744274	missense	probably damaging	1.00
IGL02868:Rbm5	APN	9	107749700	splice site	probably benign
IGL02943:Rbm5	APN	9	107744343	missense	probably damaging	1.00
IGL02959:Rbm5	APN	9	107754185	unclassified	probably benign
IGL03029:Rbm5	APN	9	107754453	missense	possibly damaging	0.46
PIT4403001:Rbm5	UTSW	9	107760336	missense	probably damaging	1.00
R0001:Rbm5	UTSW	9	107742424	missense	probably damaging	1.00
R0242:Rbm5	UTSW	9	107751708	splice site	probably benign
R1170:Rbm5	UTSW	9	107742497	missense	probably damaging	0.99
R1239:Rbm5	UTSW	9	107752966	unclassified	probably benign
R1297:Rbm5	UTSW	9	107744242	missense	probably damaging	1.00
R1719:Rbm5	UTSW	9	107743913	critical splice acceptor site	probably null
R1764:Rbm5	UTSW	9	107767564	nonsense	probably null
R1826:Rbm5	UTSW	9	107742414	missense	probably damaging	0.98
R1863:Rbm5	UTSW	9	107750519	missense	possibly damaging	0.70
R4112:Rbm5	UTSW	9	107765597	missense	probably damaging	1.00
R4343:Rbm5	UTSW	9	107752196	missense	probably damaging	1.00
R4441:Rbm5	UTSW	9	107749688	intron	probably benign
R4621:Rbm5	UTSW	9	107754146	missense	probably damaging	1.00
R4767:Rbm5	UTSW	9	107745213	missense	probably damaging	1.00
R5090:Rbm5	UTSW	9	107760312	splice site	probably benign
R5404:Rbm5	UTSW	9	107765553	missense	probably damaging	1.00
R5876:Rbm5	UTSW	9	107760326	missense	probably damaging	1.00
R5959:Rbm5	UTSW	9	107752140	missense	probably benign	0.02
R5983:Rbm5	UTSW	9	107744942	missense	probably damaging	1.00
R5984:Rbm5	UTSW	9	107744942	missense	probably damaging	1.00
R7436:Rbm5	UTSW	9	107750394	splice site	probably null
R7447:Rbm5	UTSW	9	107746179	missense	probably damaging	1.00
R7867:Rbm5	UTSW	9	107751731	missense	probably benign	0.02
R9377:Rbm5	UTSW	9	107750053	missense	probably benign	0.07
R9602:Rbm5	UTSW	9	107751953	missense	probably benign
R9694:Rbm5	UTSW	9	107744953	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTGACAACTTTCTATAAGTCAAGCGG -3'
(R):5'- AGTTTGAGGCCACCATTTAAAC -3'

Sequencing Primer
(F):5'- ACAAAGTATAACTATGACCTGCTTG -3'
(R):5'- TGAGGCCACCATTTAAACTAAATAAC -3'

Posted On

2015-06-10